Variant report

Variant	esv3445455
Chromosome Location	chr3:84559162-84562860
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 126 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:126 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147391275	chr3:84559179-84559180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187664723	chr3:84559207-84559208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs1586307	chr3:84559241-84559242	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs529345007	chr3:84559275-84559276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs193081698	chr3:84559352-84559353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566266852	chr3:84559353-84559354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185673442	chr3:84559381-84559382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552105272	chr3:84559419-84559420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs71315080	chr3:84559482-84559483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570321016	chr3:84559576-84559577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7646863	chr3:84559581-84559582	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs555865619	chr3:84559631-84559632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568182071	chr3:84559642-84559643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190526781	chr3:84559692-84559693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs980060	chr3:84559729-84559730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192387973	chr3:84559777-84559778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571914908	chr3:84559796-84559797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545555733	chr3:84559850-84559851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557647237	chr3:84559873-84559874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575902332	chr3:84559912-84559913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139014972	chr3:84559916-84559917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79264956	chr3:84559920-84559921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529426166	chr3:84559933-84559934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12714601	chr3:84559963-84559964	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs559837826	chr3:84559998-84559999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183486192	chr3:84560024-84560025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77130221	chr3:84560045-84560046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188559350	chr3:84560080-84560081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551968498	chr3:84560134-84560135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374221175	chr3:84560146-84560147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531096248	chr3:84560172-84560173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544266612	chr3:84560208-84560209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114369819	chr3:84560241-84560242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568400245	chr3:84560246-84560247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376380982	chr3:84560253-84560254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567961402	chr3:84560264-84560265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181323760	chr3:84560275-84560276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553462568	chr3:84560311-84560312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545103379	chr3:84560383-84560384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565405496	chr3:84560397-84560398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539273398	chr3:84560398-84560399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs4856531	chr3:84560443-84560444	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs575963891	chr3:84560444-84560445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543339655	chr3:84560483-84560484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143881172	chr3:84560528-84560529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185404757	chr3:84560530-84560531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541374329	chr3:84560548-84560549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370381281	chr3:84560562-84560563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559901500	chr3:84560607-84560608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527679038	chr3:84560617-84560618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Medulloblastoma	16783165	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Schizophrenia	23813976	CNVD
Lung squamous cell carcinoma	22363434	CNVD

Chromatin state (count:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:84558200-84562600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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